Detalhe da pesquisa
1.
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Hum Genomics
; 17(1): 55, 2023 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37330543
2.
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.
Mov Disord
; 38(4): 604-615, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788297
3.
No Association of Multiple Sclerosis with C9orf72 Hexanucleotide Repeat Size in an Austrian Cohort.
Int J Mol Sci
; 24(14)2023 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511014
4.
C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients.
Neurobiol Dis
; 175: 105927, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379394
5.
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study.
Mov Disord
; 37(4): 857-864, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997937
6.
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited.
Mov Disord
; 37(9): 1929-1937, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810454
7.
Development of a multiplexed targeted mass spectrometry assay for LRRK2-phosphorylated Rabs and Ser910/Ser935 biomarker sites.
Biochem J
; 478(2): 299-326, 2021 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33367571
8.
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
PLoS Genet
; 15(6): e1008180, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170158
9.
Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease.
Eur J Neurol
; 28(3): 1009-1015, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131137
10.
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.
Brain
; 143(10): 3041-3051, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029617
11.
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
J Med Genet
; 57(9): 624-633, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32086284
12.
Correction to: The urinary microbiome shows different bacterial genera in renal transplant recipients and non-transplant patients at time of acute kidney injury - a pilot study.
BMC Nephrol
; 21(1): 168, 2020 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32381055
13.
The urinary microbiome shows different bacterial genera in renal transplant recipients and non-transplant patients at time of acute kidney injury - a pilot study.
BMC Nephrol
; 21(1): 117, 2020 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32252662
14.
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Hum Genomics
; 17(1): 79, 2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37635234
15.
The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human.
Biochem J
; 475(11): 1861-1883, 2018 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29743203
16.
A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.
J Neural Transm (Vienna)
; 125(12): 1877-1883, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30182260
17.
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.
Brain
; 140(9): 2444-2459, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050400
18.
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
Am J Hum Genet
; 95(1): 85-95, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995868
19.
LRRK2 PROTAC Degraders as a Potential Novel Targeting Strategy for Parkinson's Disease?
Mov Disord
; 37(11): 2193, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196588
20.
Teaching case 1-2020 - ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementia.
Clin Neuropathol
; 41(3): 145-146, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846298